Canonical Allele Identifier: CA400556720

Gene: ACE

Linked Data

• dbSNP Id: rs1599146771
• MyVariant Identifiers: chr17:g.61564377A>C (hg19) ; chr17:g.63487016A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487016A>C , CM000679.2:g.63487016A>C	GRCh38
NC_000017.10:g.61564377A>C , CM000679.1:g.61564377A>C	GRCh37
NC_000017.9:g.58918109A>C	NCBI36
NG_011648.1:g.14944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2248A>C MANE Select	ENSP00000290866.4:p.Thr750Pro
ENST00000290863.10:c.526A>C	ENSP00000290863.6:p.Thr176Pro
ENST00000290866.9:c.2248A>C	ENSP00000290866.4:p.Thr750Pro
ENST00000413513.7:c.526A>C	ENSP00000392247.3:p.Thr176Pro
ENST00000428043.5:c.2248A>C	ENSP00000397593.2:p.Thr750Pro
ENST00000577647.2:c.526A>C	ENSP00000464149.1:p.Thr176Pro
ENST00000578839.5:c.*318A>C	ENSP00000462110.2:n.*318A>C
ENST00000579204.1:c.429A>C	ENSP00000464629.1:n.429A>C
ENST00000579314.5:c.526A>C	ENSP00000462599.1:p.Thr176Pro
ENST00000579726.5:c.810A>C
ENST00000582005.5:c.*168A>C	ENSP00000462002.1:n.*168A>C
ENST00000582761.1:c.16A>C	ENSP00000462909.1:p.Thr6Pro
ENST00000584865.5:n.194A>C
NM_000789.3:c.2248A>C	NP_000780.1:p.Thr750Pro
NM_001178057.1:c.526A>C	NP_001171528.1:p.Thr176Pro
NM_152830.2:c.526A>C	NP_690043.1:p.Thr176Pro
XM_005257110.1:c.1699A>C	XP_005257167.1:p.Thr567Pro
XM_006721737.2:c.586A>C	XP_006721800.2:p.Thr196Pro
XM_006721737.3:c.586A>C	XP_006721800.2:p.Thr196Pro
NM_000789.4:c.2248A>C MANE Select	NP_000780.1:p.Thr750Pro
NM_001178057.2:c.526A>C	NP_001171528.1:p.Thr176Pro
NM_152830.3:c.526A>C	NP_690043.1:p.Thr176Pro
NM_001382700.1:c.1681A>C	NP_001369629.1:p.Thr561Pro
NM_001382701.1:c.1396A>C	NP_001369630.1:p.Thr466Pro
NM_001382702.1:c.178A>C	NP_001369631.1:p.Thr60Pro
NR_168483.1:n.548A>C